Variant report

Variant	rs34809818
Chromosome Location	chr7:38224610-38224611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38216813..38219084-chr7:38221973..38224824,2	K562	blood:

Variant related genes	Relation type
ENSG00000010270	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11561858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12056051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12155282	0.84[AMR][1000 genomes]
rs12155480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12701609	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12701610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12701612	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12701619	0.84[AMR][1000 genomes]
rs13224408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13228385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13230963	0.84[AMR][1000 genomes]
rs13235913	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13241002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13244147	0.84[AMR][1000 genomes]
rs13244639	0.84[AMR][1000 genomes]
rs17171309	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17171318	0.84[AMR][1000 genomes]
rs17171319	0.84[AMR][1000 genomes]
rs2075008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2270166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2270170	0.84[AMR][1000 genomes]
rs34053049	0.84[AMR][1000 genomes]
rs34362539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34367511	0.84[AMR][1000 genomes]
rs34385844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34723472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34854936	0.88[EUR][1000 genomes]
rs34928238	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34938473	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34954380	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35130602	0.84[AMR][1000 genomes]
rs35268837	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35505895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35506556	0.84[AMR][1000 genomes]
rs35899177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71546629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71546630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71546632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71546635	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71546636	0.82[EUR][1000 genomes]
rs71548605	0.84[AMR][1000 genomes]
rs7349990	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7795457	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9638936	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016355	chr7:38168232-38372719	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv830963	chr7:38172988-38344779	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2762664	chr7:38201814-38228480	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv830964	chr7:38218708-38390518	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38218400-38225000	Weak transcription	Gastric	stomach
2	chr7:38218600-38226200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:38218600-38226600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:38218600-38259200	Weak transcription	Colonic Mucosa	Colon
5	chr7:38218800-38227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:38218800-38227800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:38218800-38227800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:38219200-38225000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:38219200-38225000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:38219200-38226200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:38219200-38226600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:38219400-38224800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:38219600-38225000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:38219600-38225000	Weak transcription	Right Atrium	heart
15	chr7:38219600-38225600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:38219600-38226200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:38219600-38241400	Weak transcription	Fetal Intestine Large	intestine
18	chr7:38219800-38225000	Weak transcription	Pancreas	Pancrea
19	chr7:38219800-38225400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:38219800-38226200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:38219800-38227800	Weak transcription	Lung	lung
22	chr7:38219800-38234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:38220200-38224800	Weak transcription	Stomach Mucosa	stomach
24	chr7:38220200-38225200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:38220200-38225600	Weak transcription	A549	lung
26	chr7:38220200-38226200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:38220200-38226200	Weak transcription	NHEK	skin
28	chr7:38220200-38226600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:38220200-38226600	Weak transcription	Aorta	Aorta
30	chr7:38220200-38227400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:38220200-38227800	Weak transcription	Brain Substantia Nigra	brain
32	chr7:38220200-38235400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:38220200-38235400	Weak transcription	Thymus	Thymus
34	chr7:38220200-38236800	Weak transcription	Fetal Stomach	stomach
35	chr7:38220200-38246600	Weak transcription	Fetal Thymus	thymus
36	chr7:38220200-38254800	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:38220400-38224800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:38220400-38224800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:38220400-38225200	Weak transcription	NHDF-Ad	bronchial
40	chr7:38220400-38226200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:38220400-38226200	Weak transcription	NHLF	lung
42	chr7:38220400-38226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:38220400-38226400	Weak transcription	HMEC	breast
44	chr7:38220400-38226600	Weak transcription	Brain Angular Gyrus	brain
45	chr7:38220400-38227400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:38220400-38228000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:38220400-38228400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:38220400-38230000	Weak transcription	Fetal Lung	lung
49	chr7:38220400-38232400	Weak transcription	Fetal Brain Male	brain
50	chr7:38220400-38247000	Weak transcription	Fetal Intestine Small	intestine

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